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Center for Rare Neurological Diseases

The Mass General Center for Rare Neurological Diseases (CRND) aims to eradicate rare disorders of the nervous system by leveraging the power of biological insights towards design and implementation of clinical trials.

In this section

The Orphan Drug Act of 1983 defines a rare disease as a disorder or condition that affects fewer than 200,000 persons in the United States. The Center for Rare Neurological Diseases (CRND) focuses on rare diseases of the monogenic type, in which a single gene defect causes disruptive neurological symptoms. The stringent molecular definition of these diseases provides the researcher with an opportunity to leverage unique biology toward scientific discovery.

The CRND seeks to advance treatment of rare diseases and empower the rare disease community. We achieve this through:

Advancement of research through biological insight

Mentorship of young investigators willing to engage with rare diseases

Devotion to translational research, from bench to bedside

Exploration of partnerships and collaborations with academia, patients, and industry

The CRND embodies a translational approach to research by involving academia, industry, and advocacy and patient groups.

Our Vision

The CRND envisions a paradigm shift in research and treatment of rare diseases. We endeavor to empower patient populations previously isolated by their rare diseases. Through mentorship, collaboration, and targeted research, the CRND facilitates early proof of concept studies and clinical trials. Together, we are striving to improve the lives of those affected by understudied and newly discovered neurological disorders.

Rachel Duong

Peter James

Research Projects

The goal of the CRND is to discover new treatments of rare diseases through translational research. Unlike traditional approaches in academic research, we focus on early identification of knowledge gaps, allowing for a streamlined drug development and trial implementation.

Our current projects:

In Preclinical Development: Neurometabolic Diseases of the Newborn, Neurocutaneous Disorders, and Hereditary Neuropathies

Mentorship

CRND Mentors

Massachusetts General Hospital and the Partners Residency Program are fortunate to be home to one of the oldest and strongest Neurology Training Programs in the country. This provides an opportunity to introduce promising young investigators and clinicians to rare diseases early in their careers.

Dr. Musolino is an Instructor in Neurology at Harvard Medical School and MGH. She investigates how genetically determined endothelial cell-to-cell interactions underlie a broad category of vascular and inflammatory diseases of the brain and could be treated by molecular interventions.

Dr. Seyedsadjadi is a recent and exciting addition to the Neuromuscular Division of Neurology at MGH. He aims to develop imaging biomarker and outcome measures for neuromuscular diseases, deepening our understanding of pathophysiological correlation and aiding in diagnosis, prognostication, and clinical trial implementation.

Dr. Stephen is a neurologist with a special interest in movement disorders, particularly neurogenetic movement disorders such as ataxia, dystonia and Huntington’s disease as well as rare metabolic movement disorders. He is currently faculty at the Massachusetts General Hospital in the movement disorders division, MGH Ataxia Unit and MGH Dystonia Clinic as well as the BWH Performing Arts Clinic .

Albert Misko, MD

Dr. Misko is drawn to pediatric neurology, identifying it as one of the great frontiers of medicine and a field in which translational research can flourish. Excited by the combination of research development and clinical care, Dr. Misko is deeply passionate about scientific discovery and treatment of pediatric neurological disorders.

Janice Wong, MD

Dr. Wong is a clinical fellow in neuromuscular medicine at Brigham and Women’s and Massachusetts General Hospitals from 2016-2017 with an interest in understanding the role of immunological dysfunction in neurodegenerative neuromuscular disorders – including adrenomyeloneuropathy – and its implications for clinical trials.

Partnerships

Private industry holds crucial knowledge on drug development and regulatory processes. The close proximity of MGH to many innovative companies with a shared interest in scientific discovery provides an ideal opportunity for partnership. By de-risking early phase development for rare disease therapies, the CRND makes these conditions attractive for industry engagement and investment. Teaming with Partners HealthCare Innovation helps the CRND work in concert with private industry.

Patient Advocacy Partnerships

Patient engagement is essential for drug development in orphan diseases. We seek to overcome the hierarchies of conventional patient-doctor relationships, encouraging mutual listening and sharing of knowledge and insight within the clinic.

Fellowship

This 2-year fellowship program focuses on discovering, launching, and building important companies that develop breakthrough products for patients with neurologic and psychiatric disorders. These ventures will reinforce a new paradigm of industry-academic partnership to pioneer novel treatments in neurological diseases. For more information on the fellowship and how to apply, click here.

Gene Therapy

Gene therapy is an important element of the clinical research being conducted at the CRND and in other groups at MGH. The Gene Therapy Program at MGH serves as a competent resource for investigators developing nucleic acid- or cell-based approaches to disease therapies.

Xandra O. Breakefield, PhD

Casey A. Macguire, PhD

Elizabeth Anne Thiele MD, PhD

Scott R. Plotkin, MD

Our Projects

Think Tank

CRND Think Tank

Collaboration and communication are crucial elements of scientific progress, especially in the rare disease field. In an effort to bring together rare disease experts from across departments, hospitals, and private industry, the CRND participates in quarterly “Think Tank” meetings sponsored by the MGH Division of Clinical Research. These strategic discussions give clinical researchers the opportunity to share developments and collaborate with companies invested in the rare disease space.

2016 ALDConnect Annual Meeting is held in San Diego, CA, providing exciting updates in ALD research and patient advocacy.

Florian Eichler, MD is honored as a 2015 RARE Champion of Hope alongside Ben Lenail and Kathleen O’Sullivan-Fortin of ALDConnect for their outstanding collaboration in research and advocacy on behalf of the rare disease community. Federal advisory committee for diseases in newborns voted to recommend the addition of ALD to the national newborn screening list. August 27, 2015

2015 ALDConnect Annual Meeting is held in Boston, bringing together members of the research and patient community to share updates about the organization and recent developments in ALD research.